Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Mazón, María J
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. [electronic resource] - Neuromuscular disorders : NMD Mar 2012 - 231-43 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1873-2364
10.1016/j.nmd.2011.10.013 doi
Adolescent
Adult
Biophysical Phenomena--genetics
Biophysics
Cell Line, Transformed
Child
Chloride Channels--genetics
Electric Stimulation
Electromyography
Family Health
Female
Genetic Testing--methods
Humans
Male
Membrane Potentials--genetics
Middle Aged
Mutagenesis, Site-Directed
Mutation--genetics
Myotonia--diagnosis
Patch-Clamp Techniques
Spain
Transfection
Young Adult
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. [electronic resource] - Neuromuscular disorders : NMD Mar 2012 - 231-43 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1873-2364
10.1016/j.nmd.2011.10.013 doi
Adolescent
Adult
Biophysical Phenomena--genetics
Biophysics
Cell Line, Transformed
Child
Chloride Channels--genetics
Electric Stimulation
Electromyography
Family Health
Female
Genetic Testing--methods
Humans
Male
Membrane Potentials--genetics
Middle Aged
Mutagenesis, Site-Directed
Mutation--genetics
Myotonia--diagnosis
Patch-Clamp Techniques
Spain
Transfection
Young Adult